Analysis of myeloid neoplasms with isolated trisomy 19 reveals a novel MDS subgroup characterized by the presence of ring sideroblasts, fibrosis and SRSF2 and/or ASXL1 mutations

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023736%3A_____%2F25%3A00013829" target="_blank" >RIV/00023736:_____/25:00013829 - isvavai.cz</a>

Výsledek na webu

<a href="https://doi.org/10.1007/s12308-025-00659-1" target="_blank" >https://doi.org/10.1007/s12308-025-00659-1</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/s12308-025-00659-1" target="_blank" >10.1007/s12308-025-00659-1</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Analysis of myeloid neoplasms with isolated trisomy 19 reveals a novel MDS subgroup characterized by the presence of ring sideroblasts, fibrosis and SRSF2 and/or ASXL1 mutations

Popis výsledku v původním jazyce

We collected 97 cases of myeloid neoplasia with the rare cytogenetic event of isolated trisomy 19 (+19), with the aim to characterize this group clinically and pathologically. 51 patients with myelodysplastic syndrome (MDS +19) and 11 patients with myelodysplastic/myeloproliferative neoplasms (MDS/MPN +19) presented with +19 at disease onset and were further analyzed. Patients with insufficient data were excluded. We collected additional clinical and laboratory data and performed mutation analysis on available bone marrow biopsies. Although all individual features observed in the MDS +19 and MDS/MPN +19 cohorts are seen in MDS and MDS/MPN in general, their combination is rather unique and provides clues regarding disease evolution in this rare, cytogenetically defined group of myeloid neoplasia.

Název v anglickém jazyce

Analysis of myeloid neoplasms with isolated trisomy 19 reveals a novel MDS subgroup characterized by the presence of ring sideroblasts, fibrosis and SRSF2 and/or ASXL1 mutations

Popis výsledku anglicky

We collected 97 cases of myeloid neoplasia with the rare cytogenetic event of isolated trisomy 19 (+19), with the aim to characterize this group clinically and pathologically. 51 patients with myelodysplastic syndrome (MDS +19) and 11 patients with myelodysplastic/myeloproliferative neoplasms (MDS/MPN +19) presented with +19 at disease onset and were further analyzed. Patients with insufficient data were excluded. We collected additional clinical and laboratory data and performed mutation analysis on available bone marrow biopsies. Although all individual features observed in the MDS +19 and MDS/MPN +19 cohorts are seen in MDS and MDS/MPN in general, their combination is rather unique and provides clues regarding disease evolution in this rare, cytogenetically defined group of myeloid neoplasia.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30205 - Hematology

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2025

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Journal of hematopathology

ISSN

1868-9256

e-ISSN

—

Svazek periodika

18

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

NL - Nizozemsko

Počet stran výsledku

9

Strana od-do

"art. no. 45"

Kód UT WoS článku

001590056300001

EID výsledku v databázi Scopus

2-s2.0-105018608389